SNP Links for Protein (Select 221316605) - SNP

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Links from Protein

Items: 1 to 20 of 115

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Select item 14904221761.

rs1490422176 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:122115869 (GRCh38)
11:121986577 (GRCh37)
Canonical SPDI:: NC_000011.10:122115868:T:
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000043/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122115869del, NC_000011.9:g.121986577del, NM_001001786.3:c.54del, NM_001001786.2:c.54del, NP_001001786.2:p.Glu19fs

Select item 14871574162.

rs1487157416 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:122115617 (GRCh38)
11:121986325 (GRCh37)
Canonical SPDI:: NC_000011.10:122115616:A:C
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.122115617A>C, NC_000011.9:g.121986325A>C, NM_001001786.3:c.306T>G, NM_001001786.2:c.306T>G, NP_001001786.2:p.Asn102Lys

Select item 14643499163.

rs1464349916 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:122115678 (GRCh38)
11:121986386 (GRCh37)
Canonical SPDI:: NC_000011.10:122115677:GG:G
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.122115679del, NC_000011.9:g.121986387del, NM_001001786.3:c.245del, NM_001001786.2:c.245del, NP_001001786.2:p.Pro82fs

Select item 14533151174.

rs1453315117 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:122115663 (GRCh38)
11:121986371 (GRCh37)
Canonical SPDI:: NC_000011.10:122115662:T:C
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122115663T>C, NC_000011.9:g.121986371T>C, NM_001001786.3:c.260A>G, NM_001001786.2:c.260A>G, NP_001001786.2:p.Gln87Arg

Select item 14502469425.

rs1450246942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:122115845 (GRCh38)
11:121986553 (GRCh37)
Canonical SPDI:: NC_000011.10:122115844:T:C
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122115845T>C, NC_000011.9:g.121986553T>C, NM_001001786.3:c.78A>G, NM_001001786.2:c.78A>G

Select item 14396110836.

rs1439611083 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:122115715 (GRCh38)
11:121986423 (GRCh37)
Canonical SPDI:: NC_000011.10:122115714:A:T
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122115715A>T, NC_000011.9:g.121986423A>T, NM_001001786.3:c.208T>A, NM_001001786.2:c.208T>A, NP_001001786.2:p.Tyr70Asn

Select item 14319675657.

rs1431967565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:122115679 (GRCh38)
11:121986387 (GRCh37)
Canonical SPDI:: NC_000011.10:122115678:G:A
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.122115679G>A, NC_000011.9:g.121986387G>A, NM_001001786.3:c.244C>T, NM_001001786.2:c.244C>T, NP_001001786.2:p.Pro82Ser

Select item 14249519708.

rs1424951970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:122115637 (GRCh38)
11:121986345 (GRCh37)
Canonical SPDI:: NC_000011.10:122115636:G:C
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122115637G>C, NC_000011.9:g.121986345G>C, NM_001001786.3:c.286C>G, NM_001001786.2:c.286C>G, NP_001001786.2:p.Gln96Glu

Select item 14208833079.

rs1420883307 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:122115880 (GRCh38)
11:121986588 (GRCh37)
Canonical SPDI:: NC_000011.10:122115879:A:C
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122115880A>C, NC_000011.9:g.121986588A>C, NM_001001786.3:c.43T>G, NM_001001786.2:c.43T>G, NP_001001786.2:p.Phe15Val

Select item 141941088310.

rs1419410883 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:122115643 (GRCh38)
11:121986351 (GRCh37)
Canonical SPDI:: NC_000011.10:122115642:T:C
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122115643T>C, NC_000011.9:g.121986351T>C, NM_001001786.3:c.280A>G, NM_001001786.2:c.280A>G, NP_001001786.2:p.Arg94Gly

Select item 140213311211.

rs1402133112 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:122115728 (GRCh38)
11:121986436 (GRCh37)
Canonical SPDI:: NC_000011.10:122115727:A:G
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122115728A>G, NC_000011.9:g.121986436A>G, NM_001001786.3:c.195T>C, NM_001001786.2:c.195T>C

Select item 139745840412.

rs1397458404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:122115806 (GRCh38)
11:121986514 (GRCh37)
Canonical SPDI:: NC_000011.10:122115805:T:C
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000036/5 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000011.10:g.122115806T>C, NC_000011.9:g.121986514T>C, NM_001001786.3:c.117A>G, NM_001001786.2:c.117A>G

Select item 139500748813.

rs1395007488 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:122115800 (GRCh38)
11:121986508 (GRCh37)
Canonical SPDI:: NC_000011.10:122115799:T:C
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.122115800T>C, NC_000011.9:g.121986508T>C, NM_001001786.3:c.123A>G, NM_001001786.2:c.123A>G

Select item 137777853814.

rs1377778538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:122115656 (GRCh38)
11:121986364 (GRCh37)
Canonical SPDI:: NC_000011.10:122115655:A:G
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.122115656A>G, NC_000011.9:g.121986364A>G, NM_001001786.3:c.267T>C, NM_001001786.2:c.267T>C

Select item 137638499615.

rs1376384996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:122115774 (GRCh38)
11:121986482 (GRCh37)
Canonical SPDI:: NC_000011.10:122115773:A:C
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.122115774A>C, NC_000011.9:g.121986482A>C, NM_001001786.3:c.149T>G, NM_001001786.2:c.149T>G, NP_001001786.2:p.Leu50Arg

Select item 137519763416.

rs1375197634 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:122115760 (GRCh38)
11:121986468 (GRCh37)
Canonical SPDI:: NC_000011.10:122115759:T:C
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.122115760T>C, NC_000011.9:g.121986468T>C, NM_001001786.3:c.163A>G, NM_001001786.2:c.163A>G, NP_001001786.2:p.Lys55Glu

Select item 137464561717.

rs1374645617 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:122115748 (GRCh38)
11:121986456 (GRCh37)
Canonical SPDI:: NC_000011.10:122115747:A:G
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122115748A>G, NC_000011.9:g.121986456A>G, NM_001001786.3:c.175T>C, NM_001001786.2:c.175T>C

Select item 134176757418.

rs1341767574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:122115808 (GRCh38)
11:121986516 (GRCh37)
Canonical SPDI:: NC_000011.10:122115807:G:A
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.122115808G>A, NC_000011.9:g.121986516G>A, NM_001001786.3:c.115C>T, NM_001001786.2:c.115C>T, NP_001001786.2:p.Pro39Ser

Select item 133817227219.

rs1338172272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:122115641 (GRCh38)
11:121986349 (GRCh37)
Canonical SPDI:: NC_000011.10:122115640:C:A
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.122115641C>A, NC_000011.9:g.121986349C>A, NM_001001786.3:c.282G>T, NM_001001786.2:c.282G>T, NP_001001786.2:p.Arg94Ser

Select item 132111737120.

rs1321117371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:122115613 (GRCh38)
11:121986321 (GRCh37)
Canonical SPDI:: NC_000011.10:122115612:A:G
Gene:: MIR100HG (Varview), BLID (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.122115613A>G, NC_000011.9:g.121986321A>G, NM_001001786.3:c.310T>C, NM_001001786.2:c.310T>C, NP_001001786.2:p.Ser104Pro